PT  - JOURNAL ARTICLE
AU  - Elçioglu, N
AU  - Hall, C M
TI  - A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
AID  - 10.1136/jmg.35.6.505
DP  - 1998 Jun 01
TA  - Journal of Medical Genetics
PG  - 505--507
VI  - 35
IP  - 6
4099  - http://jmg.bmj.com/content/35/6/505.short
4100  - http://jmg.bmj.com/content/35/6/505.full
SO  - J Med Genet1998 Jun 01; 35
AB  - An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.